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Terminology chevron_right Concepts chevron_right 237939006

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Component

237939006

The component that hold information about this concept.

Fully Specified Name (FSN)

Non-ketotic hyperglycinemia (disorder)

Shortest Term

Non ketotic hyperglycinemia

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Non-ketotic hyperglycinemia (disorder)

SCTID: 237939006, Primitive, Active

237939006|Non-ketotic hyperglycinemia (disorder)|

en Disorder of glycine cleavage enzyme complex
en Non ketotic hyperglycinaemia
en Non-ketotic hyperglycinaemia
en Non ketotic hyperglycinemia
en Non-ketotic hyperglycinemia
en Non-ketotic hyperglycinemia (disorder)
en Nkh - non-ketotic hyperglycinemia
en Nkh - non-ketotic hyperglycinaemia

Expression

237939006 |Non-ketotic hyperglycinemia (disorder)|
 <<< 64654004 |Hyperglycinemia (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356613013 - Disorder of glycine cleavage enzyme complex (en) View
356613013	en	Synonym (core metadata concept)	Disorder of glycine cleavage enzyme complex	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3037470016 - Non ketotic hyperglycinaemia (en) View
3037470016	en	Synonym (core metadata concept)	Non ketotic hyperglycinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
356615018 - Non-ketotic hyperglycinaemia (en) View
356615018	en	Synonym (core metadata concept)	Non-ketotic hyperglycinaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3037061014 - Non ketotic hyperglycinemia (en) View
3037061014	en	Synonym (core metadata concept)	Non ketotic hyperglycinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
356617014 - Non-ketotic hyperglycinemia (en) View
356617014	en	Synonym (core metadata concept)	Non-ketotic hyperglycinemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626744019 - Non-ketotic hyperglycinemia (disorder) (en) View
626744019	en	Fully specified name (core metadata concept)	Non-ketotic hyperglycinemia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
356616017 - NKH - Non-ketotic hyperglycinemia (en) View
356616017	en	Synonym (core metadata concept)	NKH - Non-ketotic hyperglycinemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
356614019 - NKH - Non-ketotic hyperglycinaemia (en) View
356614019	en	Synonym (core metadata concept)	NKH - Non-ketotic hyperglycinaemia	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (526913026) - 237939006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526912020) - 237939006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53570025) - 237939006 -> 64654004 (116680003) View
116680003 \|Is a (attribute)\|	64654004 \|Hyperglycinemia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
64654004 View
64654004	Hyperglycinemia (disorder)	Hyperglycinemia	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1156791007 View
1156791007	Atypical glycine encephalopathy (disorder)	Atypical glycine encephalopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1156826003 View
1156826003	Infantile glycine encephalopathy (disorder)	Infantile glycine encephalopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
773492007 View
773492007	Childhood-onset spasticity with hyperglycinemia (disorder)	Spasticity, ataxia, gait anomalies syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
63329001 View
63329001	Glycine dehydrogenase (decarboxylating) deficiency (disorder)	P protein deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
67845009 View
67845009	Aminomethyltransferase deficiency (disorder)	T protein deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303092001 View
303092001	Non-ketotic hyperglycinemia h protein deficiency (disorder)	Non-ketotic hyperglycinemia type iii	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
303093006 View
303093006	Non-ketotic hyperglycinemia l protein deficiency (disorder)	Non-ketotic hyperglycinemia type iv	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (c477098d-077c-586f-8974-0f42cfc3f98c) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.5	TRUE	ALWAYS E72.5	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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